Glycogen storage disease type 0
- Glycogen storage disease type 0
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 31944
ICD10 =
ICD9 =
ICDO =
OMIM = 240600
OMIM_mult = OMIM2|611556 | MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 873
MeshID =
Glycogen storage disease type 0 is characterized by a deficiency in the glycogen synthase enzyme. Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems.
There are two versions:
* The muscle version involves GYS1.
* The liver version involves GYS2.[cite journal |author=Orho M, Bosshard NU, Buist NR, "et al" |title=Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0 |journal=J. Clin. Invest. |volume=102 |issue=3 |pages=507–15 |year=1998 |month=August |pmid=9691087 |pmc=508911 |doi=10.1172/JCI2890 |url=http://dx.doi.org/10.1172/JCI2890] ]Additional Information
http://www.emedicine.com/PED/topic873.htm
References
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